Mutagenetix > Incidental Mutation

Incidental Mutation 'R6785:Slfn3'

531637

Institutional Source

Beutler Lab

Gene Symbol

Slfn3

Ensembl Gene

ENSMUSG00000018986

Gene Name

schlafen 3

Synonyms

MMRRC Submission

044899-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6785 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83082156-83105980 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83105427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 475 (T475S)

Ref Sequence

ENSEMBL: ENSMUSP00000150425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019130] [ENSMUST00000214041]

AlphaFold

A0A1L1STQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000019130
AA Change: T352S

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000019130
Gene: ENSMUSG00000018986
AA Change: T352S

Domain	Start	End	E-Value	Type
Pfam:AlbA_2	165	303	5.5e-11	PFAM
low complexity region	394	412	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214041
AA Change: T475S

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (59/60)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted allele exhibit normal immune cell populations. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	A	G	2: 22,843,479 (GRCm39)	V316A	probably benign	Het
Acad12	T	C	5: 121,747,908 (GRCm39)	Y170C	probably damaging	Het
Acss2	T	C	2: 155,402,605 (GRCm39)	V587A	probably damaging	Het
Adamtsl3	A	G	7: 82,171,212 (GRCm39)	I422V	probably damaging	Het
Aldh18a1	A	G	19: 40,556,788 (GRCm39)	L375P	probably damaging	Het
B020011L13Rik	A	G	1: 117,728,799 (GRCm39)	D102G	possibly damaging	Het
Cfap74	T	A	4: 155,538,481 (GRCm39)		probably benign	Het
Coa4	G	A	7: 100,188,460 (GRCm39)	V58M	probably damaging	Het
Crybg1	T	C	10: 43,875,167 (GRCm39)	N647S	probably benign	Het
Dync1h1	G	A	12: 110,596,113 (GRCm39)	G1547S	probably damaging	Het
Espnl	A	G	1: 91,249,943 (GRCm39)	D30G	probably benign	Het
Fasl	T	A	1: 161,609,404 (GRCm39)	Y194F	probably benign	Het
Fbxw8	T	C	5: 118,230,754 (GRCm39)	E349G	probably damaging	Het
Gen1	A	G	12: 11,312,531 (GRCm39)	V13A	possibly damaging	Het
Gm4559	A	G	7: 141,827,845 (GRCm39)	C86R	unknown	Het
H2-M9	T	C	17: 36,953,125 (GRCm39)	N61D	probably damaging	Het
H6pd	C	T	4: 150,067,247 (GRCm39)	E380K	possibly damaging	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Hnrnpd	C	A	5: 100,126,283 (GRCm39)	K67N	probably benign	Het
Hspg2	T	C	4: 137,235,709 (GRCm39)	S170P	probably damaging	Het
Igsf10	G	T	3: 59,226,665 (GRCm39)	P2336Q	probably damaging	Het
Itih3	C	T	14: 30,634,572 (GRCm39)		probably null	Het
Katnb1	T	C	8: 95,822,270 (GRCm39)	Y298H	probably benign	Het
Kif21a	A	T	15: 90,819,933 (GRCm39)	N1610K	probably damaging	Het
Lce1l	A	T	3: 92,757,500 (GRCm39)	C119*	probably null	Het
Lcn2	C	T	2: 32,277,039 (GRCm39)		probably null	Het
Lmf2	A	T	15: 89,236,236 (GRCm39)	S588T	probably benign	Het
Mboat7	A	G	7: 3,688,835 (GRCm39)	L231P	probably benign	Het
Mier2	T	C	10: 79,380,547 (GRCm39)	R288G	probably damaging	Het
Mybbp1a	T	C	11: 72,338,392 (GRCm39)	V694A	probably benign	Het
Ndnf	C	A	6: 65,680,047 (GRCm39)	L109I	probably benign	Het
Nfkb1	C	A	3: 135,321,064 (GRCm39)	E230D	probably benign	Het
Nostrin	A	G	2: 69,014,271 (GRCm39)	K409R	probably benign	Het
Or1j10	A	G	2: 36,266,854 (GRCm39)	Q22R	probably benign	Het
Or1j10	C	A	2: 36,266,963 (GRCm39)	Y58*	probably null	Het
Or8k35	T	A	2: 86,424,765 (GRCm39)	M136L	probably damaging	Het
Pdpr	C	A	8: 111,851,243 (GRCm39)	T534N	probably benign	Het
Plekhf1	G	A	7: 37,921,488 (GRCm39)	Q27*	probably null	Het
Ppp6c	A	T	2: 39,087,593 (GRCm39)	H204Q	probably benign	Het
Prrc2c	T	C	1: 162,536,670 (GRCm39)		probably benign	Het
Prrg2	A	G	7: 44,709,649 (GRCm39)	F83L	probably damaging	Het
Rab11fip3	T	G	17: 26,210,692 (GRCm39)	D938A	probably damaging	Het
Rai1	A	G	11: 60,079,620 (GRCm39)	N1228S	probably benign	Het
Ryr1	G	T	7: 28,764,299 (GRCm39)	T3060K	probably benign	Het
Scube2	A	G	7: 109,409,824 (GRCm39)	I557T	probably benign	Het
Setdb1	C	A	3: 95,233,712 (GRCm39)	R1066L	probably benign	Het
Shoc1	T	C	4: 59,049,066 (GRCm39)	M1100V	probably benign	Het
Slc35f3	T	C	8: 127,121,198 (GRCm39)	V353A	probably benign	Het
Snrnp200	T	A	2: 127,071,085 (GRCm39)	M1122K	possibly damaging	Het
Tead4	T	A	6: 128,219,444 (GRCm39)	K223*	probably null	Het
Tex2	A	C	11: 106,424,776 (GRCm39)	I334R	probably damaging	Het
Tfdp1	C	T	8: 13,420,485 (GRCm39)	R105W	probably damaging	Het
Tfdp1	G	T	8: 13,427,233 (GRCm39)	V393F	possibly damaging	Het
Thsd7b	T	C	1: 129,358,644 (GRCm39)	L26P	probably damaging	Het
Trim80	T	C	11: 115,332,027 (GRCm39)	I73T	probably damaging	Het
Tssk4	T	A	14: 55,887,932 (GRCm39)	Y43N	probably damaging	Het
Ttn	T	C	2: 76,541,839 (GRCm39)	T25389A	probably damaging	Het
Ttn	A	T	2: 76,578,288 (GRCm39)	F24202I	probably damaging	Het
Vmn1r177	A	G	7: 23,565,562 (GRCm39)	S105P	probably damaging	Het
Vmn2r40	T	A	7: 8,911,203 (GRCm39)	T697S	probably benign	Het
Zfp267	T	A	3: 36,219,601 (GRCm39)	C541*	probably null	Het

Other mutations in Slfn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00843:Slfn3	APN	11	83,104,257 (GRCm39)	missense	probably damaging	1.00
IGL01405:Slfn3	APN	11	83,105,542 (GRCm39)	missense	possibly damaging	0.90
IGL01631:Slfn3	APN	11	83,104,361 (GRCm39)	missense	probably damaging	0.99
IGL01944:Slfn3	APN	11	83,103,974 (GRCm39)	missense	possibly damaging	0.59
IGL02354:Slfn3	APN	11	83,104,068 (GRCm39)	missense	possibly damaging	0.95
IGL02361:Slfn3	APN	11	83,104,068 (GRCm39)	missense	possibly damaging	0.95
IGL02512:Slfn3	APN	11	83,103,851 (GRCm39)	missense	possibly damaging	0.55
IGL02875:Slfn3	APN	11	83,104,253 (GRCm39)	missense	probably damaging	0.98
IGL02944:Slfn3	APN	11	83,103,837 (GRCm39)	missense	probably damaging	0.99
IGL03402:Slfn3	APN	11	83,104,257 (GRCm39)	missense	probably damaging	1.00
R0452:Slfn3	UTSW	11	83,103,954 (GRCm39)	missense	possibly damaging	0.87
R0506:Slfn3	UTSW	11	83,103,986 (GRCm39)	missense	probably damaging	0.99
R0560:Slfn3	UTSW	11	83,103,978 (GRCm39)	missense	probably damaging	0.99
R0788:Slfn3	UTSW	11	83,103,662 (GRCm39)	missense	possibly damaging	0.47
R1602:Slfn3	UTSW	11	83,103,541 (GRCm39)	missense	probably damaging	1.00
R1713:Slfn3	UTSW	11	83,104,140 (GRCm39)	missense	probably damaging	0.98
R1881:Slfn3	UTSW	11	83,104,202 (GRCm39)	missense	possibly damaging	0.80
R2264:Slfn3	UTSW	11	83,103,798 (GRCm39)	missense	probably benign	0.00
R2441:Slfn3	UTSW	11	83,103,509 (GRCm39)	missense	probably benign	0.00
R2921:Slfn3	UTSW	11	83,105,871 (GRCm39)	missense	probably benign	0.01
R4163:Slfn3	UTSW	11	83,103,596 (GRCm39)	missense	probably damaging	1.00
R5099:Slfn3	UTSW	11	83,105,764 (GRCm39)	missense	probably damaging	0.98
R5448:Slfn3	UTSW	11	83,105,431 (GRCm39)	missense	probably damaging	0.99
R6441:Slfn3	UTSW	11	83,105,740 (GRCm39)	missense	probably benign	0.00
R6527:Slfn3	UTSW	11	83,103,932 (GRCm39)	missense	probably benign	0.01
R7128:Slfn3	UTSW	11	83,105,721 (GRCm39)	missense	probably benign	0.00
R7344:Slfn3	UTSW	11	83,103,648 (GRCm39)	missense	probably benign	0.28
R7528:Slfn3	UTSW	11	83,105,731 (GRCm39)	missense	probably benign	0.01
R7763:Slfn3	UTSW	11	83,105,614 (GRCm39)	missense	possibly damaging	0.95
R8155:Slfn3	UTSW	11	83,103,611 (GRCm39)	missense	probably damaging	1.00
R8178:Slfn3	UTSW	11	83,105,505 (GRCm39)	missense	probably benign	0.33
R8210:Slfn3	UTSW	11	83,105,332 (GRCm39)	missense	possibly damaging	0.48
R8347:Slfn3	UTSW	11	83,104,415 (GRCm39)	missense	possibly damaging	0.95
R8671:Slfn3	UTSW	11	83,103,825 (GRCm39)	missense	probably benign	0.00
R9093:Slfn3	UTSW	11	83,103,948 (GRCm39)	missense	probably damaging	0.99
R9106:Slfn3	UTSW	11	83,103,458 (GRCm39)	missense	probably benign	0.00
R9293:Slfn3	UTSW	11	83,105,616 (GRCm39)	missense	possibly damaging	0.85
R9362:Slfn3	UTSW	11	83,103,807 (GRCm39)	missense	probably benign
R9521:Slfn3	UTSW	11	83,103,825 (GRCm39)	missense	probably benign
R9522:Slfn3	UTSW	11	83,103,825 (GRCm39)	missense	probably benign
R9644:Slfn3	UTSW	11	83,105,728 (GRCm39)	missense	probably damaging	1.00
Z1176:Slfn3	UTSW	11	83,104,235 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTCCATTGGGTTGCAAAGTG -3'
(R):5'- TTAACTCGGCGCCTAGTTCC -3'

Sequencing Primer
(F):5'- CAAAGTGTGGGATTTACAAACTGC -3'
(R):5'- TAGTTCCCCAAGAAGACTGCTGTTG -3'

Posted On

2018-08-29